Departments of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center, Chicago, Illinois, USA Objective: A pilot open label, single dose trial of fenobam, an mGluR5 antagonist ...

1 Center for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, USA 2 Biomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, Wisconsin, ...

Motor kinesins are a family of evolutionary conserved proteins involved in intracellular trafficking of various cargoes, first described in the context of axonal transport. They were discovered to ...

Correspondence to: Prof. J Poulton Nuffield Department of Obstetrics and Gynaecology, John Radcliffe Hospital, Headington, Oxford, OX3 9DU, UK; joanna.poultonobstetrics-gynaecology.oxford.ac.uk ...

Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic ...

Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex ...

Correspondence to Dr Thomas Folkmann Hansen, Danish Headache Center, Department of Neurology, Rigshospitalet Glostrup, Glostrup DK2600, Denmark; thomas.folkmann.hansen{at}regionh.dk Methods 2558 male ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia ...

Clinical Cancer Genetics and Human Cancer Genetics Programs, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, The Ohio State University, 420 W 12th Avenue ...

5 Institute of Gastroenterology, Sheba Medical Center, Tel-Hashomer, 52621, Israel 6 The Susanne Levy Gerner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, 52621, Israel Correspondence to: C ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...